Waardenburg Syndrome

Waardenburg syndrome encompasses a group of genetic disorders, most commonly inherited in an autosomal dominant pattern. The syndrome is named after Dutch ophthalmologist and geneticist Petrus Johannes Waardenburg, who first described it in 1951. Pathogenic mutations disrupt the migration and proliferation of neural crest cells during embryogenesis. Because melanocytes develop from the neural crest, individuals affected by this condition exhibit abnormal melanocyte distribution, resulting in patchy depigmentation. This rare disorder involves loss of pigment-producing cells in the eyes, skin, hair, and the stria vascularis of the cochlea. Clinical presentation varies, but hallmark features include a broad nasal root, hypertelorism with dystopia of the lacrimal puncta, heterochromia or hypopigmented irides, medial eyebrow hypertrichosis, a white forelock, and congenital sensorineural hearing loss (SNHL). Although no curative treatment is available, supportive care may include cochlear implantation and surgical management of associated conditions, such as Hirschsprung disease. Genetic counseling has a key role in facilitating early diagnosis, risk assessment, and informed family planning.